Links between functional loss and mutation and deletion CNV.

The Fisher test contingency table showing the distribution of functions with elevated missense mutation frequency (columns 2 and 3) and deletion CNV rates (columns 4 and 5) between lost and gained functions. Mut(f) = 1 denotes significantly higher missense mutation frequency among the genes contributing to functional gain. CNV(f) = 1 has an analogous interpretation for deletion CNV.